Canonical Allele Identifier: CA414518790
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149486984C>G , CM000685.2:g.149486984C>G GRCh38
NC_000023.10:g.148568515C>G , CM000685.1:g.148568515C>G GRCh37
NC_000023.9:g.148376420C>G NCBI36
NG_011900.3:g.23351G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1121G>C MANE Select ENSP00000339801.6:p.Gly374Ala
ENST00000651111.1:c.488G>C ENSP00000498395.1:p.Gly163Ala
ENST00000340855.10:c.1121G>C ENSP00000339801.6:p.Gly374Ala
ENST00000422081.6:c.488G>C ENSP00000477056.1:p.Gly163Ala
ENST00000441880.1:n.228G>C
NM_000202.6:c.1121G>C NP_000193.1:p.Gly374Ala
NM_001166550.2:c.851G>C NP_001160022.1:p.Gly284Ala
NM_000202.7:c.1121G>C NP_000193.1:p.Gly374Ala
NM_001166550.3:c.851G>C NP_001160022.1:p.Gly284Ala
NM_000202.8:c.1121G>C MANE Select NP_000193.1:p.Gly374Ala
NM_001166550.4:c.851G>C NP_001160022.1:p.Gly284Ala